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Iran J Pediatr. 2013 Feb;23(1):100-4.

Cutaneous sarcoid-like granulomas in a child known with nijmegen breakage syndrome.

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  • 1Department of Pediatrics, University of Medicine and Pharmacy "Iuliu Hatieganu", Cluj Napoca, Romania.



Nijmegen Breakage Syndrome(NBS) is a rare autosomal recessive disorder with specific clinical features, characteristic chromosomal breakage and combined imunodeficiency. Patients with this condition also associate growth retardation with microcephaly, predisposition to malignancy and specific skin manifestations.


Here we report a 3-year old girl known with NBS associated with cutaneous sarcoid-like lesions. She presented with one year history of squamous lesions on the face and upper and lower limbs. The lesions were biopsied and histopatological examination revealed nonnecrotizing epitheloid granulomas and raised the suspicion of a sarcoid-like entity.


The interest of this case will serve to better understand clinical manifestations in a rare genetic entity. Close follow-up is advised as cutaneous granulomas may be the first manifestation of systemic granulomas.


Granulomas; Imunodeficiency; Nijmegen Breakage Syndrome; Sarcoid-like Lesion

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